Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort
This first WES-based study of Tibetan ASD patients reveals population-specific genetic determinants. The nine novel candidate variants, particularly in <i>C5, CRYAB, PIWIL1</i>, and <i>TSC1</i>, provide preliminary insights into ASD etiology in high-altitude populations and highlight potential targets for future diagnostic biomarker development.
Authors
- Liming Zhao (ORCID: https://orcid.org/0009-0007-7495-1457)
- Yonghong Wu (ORCID: https://orcid.org/0000-0003-1028-1785)
- Zeng He (ORCID: https://orcid.org/0000-0003-2649-5243)
- Zhengyao Cai
- Ming Zhou (ORCID: https://orcid.org/0000-0003-1381-9982)
- Hongwei Li (ORCID: https://orcid.org/0000-0003-0680-3229)
- Yongjun He (ORCID: https://orcid.org/0000-0002-2697-5012)
- Qianqiu Che
Institutions
- Xizang Minzu University (CN)
- Fourth People's Hospital of Sichuan Province (CN)
Publication Details
- Journal
- Pharmacogenomics and Personalized Medicine
- Published
- 2025-09-01
- DOI
- https://doi.org/10.2147/pgpm.s525556
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00